Canonical Allele Identifier: CA349624875

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435375T>A (hg19) ; chr2:g.178570648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570648T>A , CM000664.2:g.178570648T>A	GRCh38
NC_000002.11:g.179435375T>A , CM000664.1:g.179435375T>A	GRCh37
NC_000002.10:g.179143621T>A	NCBI36
NG_011618.3:g.265155A>T , LRG_391:g.265155A>T
NG_051363.1:g.52822T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67780A>T (TTN)	ENSP00000343764.6:p.Ser22594Cys
ENST00000342175.11:c.48865A>T (TTN)	ENSP00000340554.6:p.Ser16289Cys
ENST00000359218.10:c.48664A>T (TTN)	ENSP00000352154.5:p.Ser16222Cys
ENST00000342175.10:c.48865A>T (TTN)	ENSP00000340554.6:p.Ser16289Cys
ENST00000342992.10:c.67780A>T (TTN)	ENSP00000343764.6:p.Ser22594Cys
ENST00000359218.9:c.48664A>T (TTN)	ENSP00000352154.5:p.Ser16222Cys
ENST00000460472.6:c.48289A>T (TTN)	ENSP00000434586.1:p.Ser16097Cys
ENST00000589042.5:c.75484A>T (TTN) MANE Select	ENSP00000467141.1:p.Ser25162Cys
ENST00000591111.5:c.70561A>T (TTN)	ENSP00000465570.1:p.Ser23521Cys
ENST00000615779.4:c.70561A>T (TTN)	ENSP00000483597.1:p.Ser23521Cys
NM_001256850.1:c.70561A>T (TTN)	NP_001243779.1:p.Ser23521Cys
NM_001267550.2:c.75484A>T (TTN) MANE Select	NP_001254479.2:p.Ser25162Cys
NM_003319.4:c.48289A>T (TTN)	NP_003310.4:p.Ser16097Cys
NM_133378.4:c.67780A>T (TTN)	NP_596869.4:p.Ser22594Cys
NM_133432.3:c.48664A>T (TTN)	NP_597676.3:p.Ser16222Cys
NM_133437.4:c.48865A>T (TTN)	NP_597681.4:p.Ser16289Cys
NR_038271.1:n.447-652T>A (TTN-AS1)
NR_038272.1:n.2044-11924T>A (TTN-AS1)
XM_011511729.1:c.74581A>T (TTN)	XP_011510031.1:p.Ser24861Cys
XM_011511730.1:c.48475A>T (TTN)	XP_011510032.1:p.Ser16159Cys
XM_011511731.1:c.48334A>T (TTN)	XP_011510033.1:p.Ser16112Cys
XM_017004819.1:c.74377A>T (TTN)	XP_016860308.1:p.Ser24793Cys
XM_017004820.1:c.69775A>T (TTN)	XP_016860309.1:p.Ser23259Cys
XM_017004821.1:c.69772A>T (TTN)	XP_016860310.1:p.Ser23258Cys
XM_017004822.1:c.66814A>T (TTN)	XP_016860311.1:p.Ser22272Cys
XM_017004823.1:c.48430A>T (TTN)	XP_016860312.1:p.Ser16144Cys
XM_024453094.1:c.69925A>T (TTN)	XP_024308862.1:p.Ser23309Cys
XM_024453095.1:c.69922A>T (TTN)	XP_024308863.1:p.Ser23308Cys
XM_024453096.1:c.69355A>T (TTN)	XP_024308864.1:p.Ser23119Cys
XM_024453097.1:c.66697A>T (TTN)	XP_024308865.1:p.Ser22233Cys
XM_024453098.1:c.66616A>T (TTN)	XP_024308866.1:p.Ser22206Cys
XM_024453099.1:c.48379A>T (TTN)	XP_024308867.1:p.Ser16127Cys
XM_024453100.1:c.38233A>T (TTN)	XP_024308868.1:p.Ser12745Cys